Синдром раннього ожиріння-гіперфагії-тяжкої затримки розвитку
ORPHA:99704· ICD-10 E66.8· Early-onset obesity-hyperphagia-severe developmental delay syndrome
Визначення(English summary)
A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases.
- Успадкування
- Autosomal dominant